Massively parallel sequencing of cell-free DNA in plasma for detecting gynaecological tumour-associated copy number alteration.

ABSTRACT: The discovery of circulating tumour DNA molecules created a paradigm shift in tumour biomarkers as predictors of recurrence. Non-invasive prenatal testing (NIPT) to detect circulating cell-free foetal DNA in maternal plasma is increasingly recognised as a valuable substitute to perceive foetal copy number variation (CNV). This study aimed to determine whether the copy number detection in plasma samples using NIPT platform could be used as a prognostic biomarker in patients with gynaecological cancer. We conducted a prospective study using samples containing preoperative plasma from 100 women with gynaecological cancers. Samples were randomly rearranged and blindly sequenced using a low-coverage whole-genome sequencing plasma DNA, NIPT platform. The NIPT pipeline identified copy number alte

SUBMITTER: Nakabayashi M 

PROVIDER: S-EPMC6060170 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature